| http://purl.uniprot.org/citations/22595969 | http://www.w3.org/1999/02/22-rdf-syntax-ns#type | http://purl.uniprot.org/core/Journal_Citation |
| http://purl.uniprot.org/citations/22595969 | http://www.w3.org/2000/01/rdf-schema#comment | "Variable number tandem repeats (VNTRs) constitute a relatively under-examined class of genomic variants in the context of complex disease because of their sequence complexity and the challenges in assaying them. Recent large-scale genome-wide copy number variant mapping and association efforts have highlighted the need for improved methodology for association studies using these complex polymorphisms. Here we describe the in-depth investigation of a complex region on chromosome 8p21.2 encompassing the dedicator of cytokinesis 5 (DOCK5) gene. The region includes two VNTRs of complex sequence composition which flank a common 3975 bp deletion, all three of which were genotyped by polymerase chain reaction and fragment analysis in a total of 2744 subjects. We have developed a novel VNTR association method named VNTRtest, suitable for association analysis of multi-allelic loci with binary and quantitative outcomes, and have used this approach to show significant association of the DOCK5 VNTRs with childhood and adult severe obesity (P(empirical)= 8.9 × 10(-8) and P= 3.1 × 10(-3), respectively) which we estimate explains ~0.8% of the phenotypic variance. We also identified an independent association between the 3975 base pair (bp) deletion and obesity, explaining a further 0.46% of the variance (P(combined)= 1.6 × 10(-3)). Evidence for association between DOCK5 transcript levels and the 3975 bp deletion (P= 0.027) and both VNTRs (P(empirical)= 0.015) was also identified in adipose tissue from a Swedish family sample, providing support for a functional effect of the DOCK5 deletion and VNTRs. These findings highlight the potential role of DOCK5 in human obesity and illustrate a novel approach for analysis of the contribution of VNTRs to disease susceptibility through association studies."xsd:string |
| http://purl.uniprot.org/citations/22595969 | http://purl.org/dc/terms/identifier | "doi:10.1093/hmg/dds187"xsd:string |
| http://purl.uniprot.org/citations/22595969 | http://purl.uniprot.org/core/author | "Froguel P."xsd:string |
| http://purl.uniprot.org/citations/22595969 | http://purl.uniprot.org/core/author | "Blakemore A.I."xsd:string |
| http://purl.uniprot.org/citations/22595969 | http://purl.uniprot.org/core/author | "Dina C."xsd:string |
| http://purl.uniprot.org/citations/22595969 | http://purl.uniprot.org/core/author | "Falchi M."xsd:string |
| http://purl.uniprot.org/citations/22595969 | http://purl.uniprot.org/core/author | "Alves A.C."xsd:string |
| http://purl.uniprot.org/citations/22595969 | http://purl.uniprot.org/core/author | "Jacobson P."xsd:string |
| http://purl.uniprot.org/citations/22595969 | http://purl.uniprot.org/core/author | "Walters R.G."xsd:string |
| http://purl.uniprot.org/citations/22595969 | http://purl.uniprot.org/core/author | "Sladek R."xsd:string |
| http://purl.uniprot.org/citations/22595969 | http://purl.uniprot.org/core/author | "Meyre D."xsd:string |
| http://purl.uniprot.org/citations/22595969 | http://purl.uniprot.org/core/author | "Carlsson L.M."xsd:string |
| http://purl.uniprot.org/citations/22595969 | http://purl.uniprot.org/core/author | "Sjostrom L."xsd:string |
| http://purl.uniprot.org/citations/22595969 | http://purl.uniprot.org/core/author | "Walley A."xsd:string |
| http://purl.uniprot.org/citations/22595969 | http://purl.uniprot.org/core/author | "Bottolo L."xsd:string |
| http://purl.uniprot.org/citations/22595969 | http://purl.uniprot.org/core/author | "Visvikis-Siest S."xsd:string |
| http://purl.uniprot.org/citations/22595969 | http://purl.uniprot.org/core/author | "Coin L.J."xsd:string |
| http://purl.uniprot.org/citations/22595969 | http://purl.uniprot.org/core/author | "Buxton J.L."xsd:string |
| http://purl.uniprot.org/citations/22595969 | http://purl.uniprot.org/core/author | "Andersson-Assarsson J.C."xsd:string |
| http://purl.uniprot.org/citations/22595969 | http://purl.uniprot.org/core/author | "Asher J.E."xsd:string |
| http://purl.uniprot.org/citations/22595969 | http://purl.uniprot.org/core/author | "El-Sayed Moustafa J.S."xsd:string |
| http://purl.uniprot.org/citations/22595969 | http://purl.uniprot.org/core/author | "Eleftherohorinou H."xsd:string |
| http://purl.uniprot.org/citations/22595969 | http://purl.uniprot.org/core/author | "Hadjigeorgiou E."xsd:string |
| http://purl.uniprot.org/citations/22595969 | http://purl.uniprot.org/core/author | "de Smith A.J."xsd:string |